Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918100
rs121918100
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		C 0.800 CausalMutation CLINVAR Neuropathologic analysis of Tyr69His TTR variant meningovascular amyloidosis with dementia. 26156087

2015
dbSNP: rs121918100
rs121918100
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		C 0.800 CausalMutation CLINVAR Oculoleptomeningeal amyloidosis in 3 individuals with the transthyretin variant Tyr69His. 19491989

2009
dbSNP: rs121918100
rs121918100
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		C 0.800 CausalMutation CLINVAR Report of five rare or previously unknown amyloidogenic transthyretin mutations disclosed in Sweden. 19922332

2009
dbSNP: rs121918100
rs121918100
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		C 0.800 CausalMutation CLINVAR Transthyretin RNA profiling in livers from transplanted patients affected by familial amyloidotic polyneuropathy, and identification of a dual transcription start point. 16448460

2006
dbSNP: rs121918100
rs121918100
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		C 0.800 CausalMutation CLINVAR Oculoleptomeningeal amyloidosis in a large kindred with a new transthyretin variant Tyr69His. 12771253

2003